A de novo mutation (Gln2Stop) at the 5′ end of the SRY gene leads to sex reversal with partial ovarian function

被引：39

作者：

Brown, S

Yu, CC

Lanzano, P

Heller, D

Thomas, L

Warburton, D

Kitajewski, J

Stadtmauer, L

机构：

[1] Columbia Univ, Dept Obstet & Gynecol, New York, NY 10032 USA

[2] Columbia Univ, Dept Pathol, New York, NY 10032 USA

[3] Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

[4] Columbia Univ, Dept Pediat, New York, NY 10032 USA

[5] CUNY, Presbyterian Hosp, New York, NY USA

[6] Harlem Hosp, Dept Pathol, New York, NY USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1998年 / 62卷 / 01期

关键词：

D O I：

10.1086/301684

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：189 / 192

页数：4

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